Dup(3) (p23p25) syndrome and array-based comparative genomic hybridization

Abstract

1016-3190/$ e see front matter Copyright 2012, Bu doi:10.1016/j.tcmj.2011.12.001 A high resolution peripheral blood G-banded chromosome study was arranged for a 3-month-old female infant due to the presence of multiple congenital anomalies (MCA), including: flat face, flat occiput, flat nasal bridge, retrognathia, fish mouth, low set and dysplastic ears, temporal narrowing, short neck and prominent nuchal fold, and clinodactyly and hypoplastic toe nails (Fig. 1). Soon after birth, the infant was found to have mild whole body edema with hypoalbuminemia of an unknown cause and congenital heart disease, which included patent ductus arteriosus (PDA) and tricuspid regurgitation. No evidence of congestive heart failure or PDA persisted after two doses of oral indomethacin. Preterm labor had not occurred and the infant’s birth weight was 3.2 kg. During follow-up at an outpatient clinic, weak crying, extended daytime sleeping, and delayed developmental milestones were noted by the early infant developmental screening program. Karyotyping revealed 46,XX, dup(3) (p23p25) (20 cells); a surprising de novo chromosomal aberration due to the fact that parental peripheral blood chromosome studies were normal. No similar chromosomal anomaly has been identified in Taiwan or in the scientific literature. Chromosomal microarray (CMA) by array-based comparative genomic hybridization (aCGH) was carried out in order to determine copy number of the chromosomal aberration and revealed: arr 3p26.3p24.2 (RP11-63O1/RP111149N13) 3 (Fig. 2). In 2010, consensus was that CMA is a first-tier clinical diagnosis method for patients affected by multiple congenital anomalies,